MTHFR Mutation Detection Test Cost & Procedure

What is an MTHFR gene test?

A blood sample is used in an MTHFR gene test to check for two extremely common alterations in the MTHFR gene. An MTHFR variation or MTHFR mutation is another name for a change in this gene. Genes are parts of DNA that you inherit from your parents and are established in your cells. Genes include instructions that govern how your body functions and how you look.

One from each parent, you have two copies of the MTHFR gene. The MTHFR protein can be produced using instructions from the genes. Several meals include folate, a form of B vitamin, which this protein aids your body in using. To break down the amino acid homocysteine, your body requires folate and additional B vitamins.

You typically have relatively little homocysteine in your bloodstream since it is swiftly broken down by your body. However, if you have a mutation in an MTHFR gene, your body's MTHFR proteins might not process folate as well as they should.

What is it used for?

The two most prevalent MTHFR mutations, C677T and A1298C, are checked for using an MTHFR gene test. It is conceivable to have one of these gene alterations without experiencing any adverse health consequences. A genetic test panel may include an MTHFR gene test or it may be performed independently.

The test could be applied to:

Check your blood homocysteine levels to see if a common MTHFR gene alteration is to blame. However, whether or not you have a gene alteration, the treatment for elevated homocysteine is the same.

Calculate your chance of getting early heart or blood vessel disease, blood clots, or both. Some medical professionals advise against utilizing MTHFR testing for this purpose because it is unclear if homocysteine levels influence the risk of certain disorders.

What happens during an MTHFR gene test?

Using a tiny needle, a medical practitioner will draw blood from a vein in your arm. Following the insertion of the needle, a tiny amount of blood will be gathered in a test tube or vial. When the needle enters or exits, you can experience a slight sting. Normally, this takes less than five minutes.

What do the results mean?

Whether you have one of the two most common mutations in the MTHFR gene or both, can be determined by the results of an MTHFR gene test. Positive or negative test results are typically reported:

A positive test result indicates that you have either one or both of your MTHFR genes altered.

When both of the usual MTHFR gene alterations are absent from your blood sample, the test is negative.